Ferencziová Veronika, Harami Gábor M, Németh Julianna B, Vellai Tibor, Kovács Mihály
Department of Biochemistry, ELTE-MTA "Momentum" Motor Enzymology Research Group, Eötvös Loránd University, Pázmány P. s. 1/c, Budapest, Hungary.
Department of Genetics, Eötvös Loránd University, Pázmány P. s. 1/c, Budapest, Hungary.
PLoS One. 2018 Feb 22;13(2):e0192483. doi: 10.1371/journal.pone.0192483. eCollection 2018.
Homologous recombination (HR) is crucial for the error-free repair of DNA double-strand breaks (DSBs) and the restart of stalled replication. However, imprecise HR can lead to genome instability, highlighting the importance of HR quality control. After DSB formation, HR proceeds via DNA end resection and recombinase loading, whereas helicase-catalyzed disruption of a subset of subsequently formed DNA invasions is thought to be essential for maintaining HR accuracy via inhibiting illegitimate (non-allelic) recombination. Here we show that in vitro characterized mechanistic aberrations of E. coli RecBCD (resection and recombinase loading) RecQ (multifunctional DNA-restructuring helicase) mutant enzyme variants, on one hand, cumulatively deteriorate cell survival under certain conditions of genomic stress. On the other hand, we find that RecBCD and RecQ defects functionally compensate each other in terms of HR accuracy. The abnormally long resection and unproductive recombinase loading activities of a mutant RecBCD complex (harboring the D1080A substitution in RecB) cause enhanced illegitimate recombination. However, this compromised HR-accuracy phenotype is suppressed in double mutant strains harboring mutant RecQ variants with abnormally enhanced helicase and inefficient invasion disruptase activities. These results frame an in vivo context for the interplay of biochemical activities leading to illegitimate recombination, and underscore its long-range genome instability effects manifest in higher eukaryotes.
同源重组(HR)对于DNA双链断裂(DSB)的无差错修复以及停滞复制的重新启动至关重要。然而,不精确的HR会导致基因组不稳定,凸显了HR质量控制的重要性。DSB形成后,HR通过DNA末端切除和重组酶加载进行,而解旋酶催化破坏随后形成的一部分DNA侵入被认为对于通过抑制非法(非等位)重组来维持HR准确性至关重要。在这里,我们表明,一方面,体外表征的大肠杆菌RecBCD(切除和重组酶加载)RecQ(多功能DNA重组解旋酶)突变酶变体的机制异常,在基因组应激的某些条件下会累积降低细胞存活率。另一方面,我们发现RecBCD和RecQ缺陷在HR准确性方面在功能上相互补偿。突变的RecBCD复合物(RecB中含有D1080A取代)异常长的切除和无效的重组酶加载活性会导致非法重组增加。然而,在携带具有异常增强的解旋酶和低效侵入破坏酶活性的突变RecQ变体的双突变菌株中,这种受损的HR准确性表型受到抑制。这些结果为导致非法重组的生化活动的相互作用构建了一个体内背景,并强调了其在高等真核生物中表现出的长期基因组不稳定效应。